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HIES
MCID: HYP458
MIFTS: 54

Hyper Ige Syndrome (HIES)

Categories: Blood diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hyper Ige Syndrome

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MalaCards integrated aliases for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome 12 52
Hyper-Ige Syndrome 58 36 29 54 6
Hyperimmunoglobulin E Syndrome 52 39
Hyper-Ige Recurrent Infection Syndrome 52
Hyper Immunoglobulin E Syndrome 12
Hartnup Disease 71
Job Syndrome 71
Hyper Ige 74
Hies 52

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0080545
KEGG 36 H01968
ICD10 32 D82.4
ICD10 via Orphanet 33 D82.4
UMLS via Orphanet 72 C3887645
Orphanet 58 ORPHA331223
UMLS 71 C0018609 C3887645
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Summaries for Hyper Ige Syndrome

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KEGG : 36 Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. One of the involved genes in pathogenesis of HIES is STAT3 that causes autosomal dominant type. In most sporadic and autosomal dominant cases, the HIES is part of a multisystem disorder including abnormalities of the soft tissue, skeletal, and dental systems. In contrast, those with autosomal recessive-HIES have severe molluscum contagiosum and viral infections and may develop severe neurological complications. Recently, It has been reported that mutations in DOCK8, TYK2, and PGM3 cause autosomal recessive HIES.

MalaCards based summary : Hyper Ige Syndrome, also known as hyper-ige syndrome, is related to hyper ige recurrent infection syndrome 1 and chronic mucocutaneous candidiasis, and has symptoms including seizures An important gene associated with Hyper Ige Syndrome is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Pathways in cancer. The drugs Miconazole and Posaconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related phenotypes are hematopoietic system and immune system

Disease Ontology : 12 A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs.

NIH Rare Diseases : 52 Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE , skin inflammation (dermatitis) and recurrent skin and lung infections. There are two forms of HIES, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES). Click on the embedded links to learn more about autosomal dominant HIES (or Job syndrome) and autosomal recessive HIES.

Wikipedia : 74 Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job's syndrome... more...

Sources

Related Diseases for Hyper Ige Syndrome

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Diseases related to Hyper Ige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1534)
# Related Disease Score Top Affiliating Genes
1 hyper ige recurrent infection syndrome 1 32.0 TYK2 STAT3 PGM3 DOCK8
2 chronic mucocutaneous candidiasis 30.9 TYK2 STAT3 IL4 IFNG DOCK8
3 candidiasis 30.2 STAT3 IL4 IFNG
4 dermatitis 30.1 STAT3 IL4 IGHE IFNG
5 eczema herpeticum 30.1 IFNG DOCK8
6 folliculitis 29.9 IL4 IFNG
7 aspergillosis 29.9 STAT3 IL4 IFNG
8 strongyloidiasis 29.8 IGHE IFNG
9 combined t cell and b cell immunodeficiency 29.8 STAT3 IL4 DOCK8
10 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 29.7 IL4 DOCK8
11 nail disease 29.7 TYK2 STAT3 DOCK8
12 orofacial granulomatosis 29.6 IL4 IFNG
13 otitis media 29.5 IL4 IGHE IFNG
14 lung abscess 29.5 STAT3 IGES IFNG DOCK8
15 echinococcosis 29.4 IGHE IFNG
16 dermatitis, atopic 29.3 STAT3 IL4 IGHE IGES IFNG
17 clonorchiasis 29.3 IGHE IFNG
18 ige responsiveness, atopic 29.2 IL4 IGHE IGES IFNG
19 hypereosinophilic syndrome 29.2 STAT3 IL4 IGHE IGES IFNG
20 cystic echinococcosis 29.2 IGHE IFNG
21 crohn's disease 29.2 STAT3 IL4 IFNG
22 poliomyelitis 29.2 IL4 IFNG
23 conjunctivitis 29.1 IL4 IGHE IFNG
24 schistosomiasis 29.1 IL4 IGHE IFNG
25 rhinitis 29.1 IL4 IGHE IFNG
26 milk allergy 29.1 IL4 IGHE IGES
27 lymphopenia 29.0 TYK2 IL4 IFNG
28 chickenpox 29.0 IL4 IFNG DOCK8
29 colitis 29.0 STAT3 IL4 IFNG
30 common variable immunodeficiency 29.0 STAT3 IL4 IFNG
31 allergic bronchopulmonary aspergillosis 28.9 IL4 IGHE IGES IFNG
32 food allergy 28.9 IL4 IGHE IGES IFNG
33 acute graft versus host disease 28.9 IL4 IFNG
34 scleritis 28.9 IL4 IFNG
35 opisthorchiasis 28.8 IL4 IGES
36 allergic asthma 28.8 IL4 IGHE IFNG
37 hepatitis c 28.8 TYK2 STAT3 IFNG
38 arthritis 28.7 STAT3 IL6ST IL4 IFNG
39 toxoplasmosis 28.6 STAT3 IL4 IFNG
40 bone inflammation disease 28.6 STAT3 IL4 IFNG
41 allergic rhinitis 28.5 IL4 IGHE IGES IFNG
42 allergic hypersensitivity disease 28.5 IL4 IGHE IGES IFNG
43 severe combined immunodeficiency 28.4 TYK2 PGM3 IL4 IFNG
44 inflammatory bowel disease 28.0 TYK2 STAT3 IL6ST IL4 IFNG
45 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.8
46 his bundle tachycardia 12.6
47 obsolete: autosomal recessive hyper-ige syndrome 12.6
48 hyper-ige recurrent infection syndrome 1, autosomal dominant 12.5
49 hyper-ige recurrent infection syndrome 2, autosomal recessive 12.3
50 dock8 immunodeficiency syndrome 12.1

Graphical network of the top 20 diseases related to Hyper Ige Syndrome:



Diseases related to Hyper Ige Syndrome
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Symptoms & Phenotypes for Hyper Ige Syndrome

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UMLS symptoms related to Hyper Ige Syndrome:


seizures

MGI Mouse Phenotypes related to Hyper Ige Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.5 DOCK8 IFNG IL4 IL6ST PGM3 STAT3
2 immune system MP:0005387 9.17 DOCK8 IFNG IL4 IL6ST PGM3 STAT3
Sources

Drugs & Therapeutics for Hyper Ige Syndrome

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Drugs for Hyper Ige Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
2
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
3 Antifungal Agents Phase 3
4 Anti-Infective Agents Phase 3
5 Antiprotozoal Agents Phase 3
6 Antiparasitic Agents Phase 3
7 Cytochrome P-450 Enzyme Inhibitors Phase 3
8 Steroid Synthesis Inhibitors Phase 3
9 Hormone Antagonists Phase 3
10 Hormones Phase 3
11
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
12
Histamine Approved, Investigational Phase 2 51-45-6 774
13
Sodium citrate Approved, Investigational Phase 2 68-04-2
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
15 Antibodies Phase 2
16 Immunoglobulins Phase 2
17 Vaccines Phase 2
18 Agglutinins Phase 2
19 Immunologic Factors Phase 2
20 Autoantibodies Phase 2
21 Anti-Bacterial Agents Phase 2
22 Liposomal amphotericin B Phase 2
23 Gastrointestinal Agents Phase 2
24 Anti-Ulcer Agents Phase 2
25 Citrate Phase 2
26 Neurotransmitter Agents Phase 2
27 Histamine Antagonists Phase 2
28 Bismuth tripotassium dicitrate Phase 2
29 Ranitidine bismuth citrate Phase 2
30
Bismuth Phase 2 7440-69-9 16682734 105143
31 Antacids Phase 2
32 Histamine H2 Antagonists Phase 2
33
Histamine Phosphate Phase 2 51-74-1 65513
34
Omalizumab Approved, Investigational Phase 1 242138-07-4
35
Warfarin Approved Phase 1 81-81-2 6691 54678486
36 Anti-Asthmatic Agents Phase 1
37 Respiratory System Agents Phase 1
38 Anti-Allergic Agents Phase 1
39 Pharmaceutical Solutions Phase 1
40 Coagulase
41 Yellow Dock

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Open Label, Limited Access Protocol of Posaconazole in Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
2 A Phase 2a Study to Evaluate the Safety, Tolerability, and Immunogenicity of One Dose of NDV-3A Vaccine in Patients With STAT3-Mutated Hyper-IgE Syndrome Completed NCT02996448 Phase 2 NDV-3A
3 A Phase 2a Efficacy, Safety, Tolerability, and PK Study of Encochleated Amphotericin B (CAMB/MAT2203) in Patients With Mucocutaneous Candidiasis Who Are Refractory or Intolerant to Standard Non-Intravenous Therapies Active, not recruiting NCT02629419 Phase 2 Amphotericin B
4 Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors Enrolling by invitation NCT01852370 Phase 1, Phase 2
5 A Double-Blind, Randomized, Placebo-Controlled Cross-Over Study Assessing the Role of Pathogen-Specific IgE and Histamine Release in the Hyper-IgE Syndrome and the Effect of Ranitidine on Laboratory and Clinical Manifestations Terminated NCT00527878 Phase 2 Ranitidine;Placebo
6 Pilot Study of Omalizumab (Xolair) in Hyper IgE (Job's) Syndrome Completed NCT00260702 Phase 1 Omalizumab (Xolair)
7 Diagnostic Efficacy of Virtual Bronchoscopy Completed NCT00001515 Phase 1
8 Immunologic Effects of Supplemental Monosaccharide and Nucleoside Derivatives in Patients With Inherited Disorders of Glycosylation Terminated NCT02511041 Phase 1 N-Acetylglucosamine (GlcNAc);Uridine
9 NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome Unknown status NCT02228941
10 Validation Study of mHealth Technology in HIV to Improve Empowerment and Healthcare Utilisation: Research and Innovation to Generate Evidence for Personalised Care (EmERGE) Unknown status NCT02904733
11 Human Immunity Against Staphylococcus Aureus Skin Infection Completed NCT02262819 S. aureus
12 Genetic Disorders of Mucociliary Clearance Completed NCT00368446
13 Cognitive Function in Leukocyte Disorders Completed NCT00005933
14 Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES) Recruiting NCT00006150
15 Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis Patients Recruiting NCT00605878
16 Oral Microbial and Immunological Characterization of Patients With Immune Dysfunction Recruiting NCT01568697
17 NIH Participation to USIDNET Registry Recruiting NCT01953016
18 Natural History, Genetics, Phenotype and Treatment of Mycobacterial Infections Recruiting NCT00018044
19 Skin Immunity Sample Collection Involving Blisters and Biopsies Not yet recruiting NCT03921515 Early Phase 1

Search NIH Clinical Center for Hyper Ige Syndrome

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Genetic Tests for Hyper Ige Syndrome

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Genetic tests related to Hyper Ige Syndrome:

# Genetic test Affiliating Genes
1 Hyper-Ige Syndrome 29
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Anatomical Context for Hyper Ige Syndrome

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MalaCards organs/tissues related to Hyper Ige Syndrome:

40
Skin, Lung, Bone, T Cells, B Cells, Bone Marrow, Neutrophil
Sources

Publications for Hyper Ige Syndrome

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Articles related to Hyper Ige Syndrome:

(show top 50) (show all 573)
# Title Authors PMID Year
1
Reduced expression of chemoattractant receptors by polymorphonuclear leukocytes in Hyper IgE Syndrome patients. 61 54
20005258 2010
2
Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients. 54 61
20032313 2010
3
A novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene, in hyper-IgE syndrome. 54 61
20149460 2010
4
Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. 61 54
20093388 2010
5
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. 61 54
20159255 2010
6
Hyper-IgE syndrome with STAT3 mutation: a case report in Mainland China. 54 61
20490271 2010
7
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. 61 54
20004785 2009
8
Hyper-IgE syndrome. 54 61
19717292 2009
9
TH17 cells and regulatory T cells in primary immunodeficiency diseases. 61 54
19410687 2009
10
STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families. 54 61
18841165 2009
11
Hyper IgE syndrome with umbilical hernia. 54 61
20101344 2009
12
[Hyper-IgE syndrome with mutation in STAT3 gene - case report and literature review]. 61 54
19648655 2009
13
Rare association of hyper IgE syndrome with cervical rib and natal teeth. 54 61
20101342 2009
14
Elevated serum immunoglobulin E (IgE): when to suspect hyper-IgE syndrome-A 10-year pediatric tertiary care center experience. 54 61
19331717 2009
15
Insights into the role of STAT3 in human lymphocyte differentiation as revealed by the hyper-IgE syndrome. 61 54
19109129 2009
16
Primary immune deficiencies with aberrant IgE production. 54 61
19084106 2008
17
Reduced memory B cells in patients with hyper IgE syndrome. 54 61
18835223 2008
18
Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. 54 61
18978467 2008
19
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. 54 61
18706697 2008
20
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. 61 54
18602572 2008
21
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. 61 54
18591410 2008
22
Histopathologic Findings of Pneumatocele in a Patient with Hyper-IgE syndrome, compatible with cystic adenomatoid malformation. 54 61
18552413 2008
23
Fournier gangrene associated with hyper IgE syndrome (Job syndrome). 54 61
18380833 2008
24
[STAT3 mutation identified in patients with Hyper-IgE syndrome]. 54 61
18334168 2008
25
Hyperimmunoglobulin E syndrome (Job's syndrome). 54 61
19284090 2008
26
STAT3 mutations in the hyper-IgE syndrome. 54 61
17881745 2007
27
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. 61 54
17676033 2007
28
[Allergic disease with IgE hypersynthesis. Proposal of a new denomination for an allergic disease confused with immunodeficiency]. 54 61
18297852 2007
29
Causes of death in hyper-IgE syndrome. 54 61
17335882 2007
30
The hyper IgE syndrome and mutations in TYK2. 61 54
17521577 2007
31
[Pneumocystis carinii pneumonia in a patient with hyper-IgE syndrome]. 61 54
17554982 2007
32
Hyper IgE syndrome: review and future directions. 54 61
20477605 2005
33
No indication for a defect in toll-like receptor signaling in patients with hyper-IgE syndrome. 61 54
16133988 2005
34
Production of biologically active recombinant human soluble CD23 and its effect on PBMCs isolated from hyper-IgE blood. 54 61
16083870 2005
35
Non-Hodgkin's lymphoma in Job's syndrome: a case report and literature review. 54 61
15621772 2004
36
Cow's milk allergy in a patient with hyper-IgE syndrome. 61 54
15104201 2004
37
[28-Year-Old Patient with Elevated Serum IgE Levels and Multiple Refractory Epidural and Paravertebral Abscesses. Clinical manifestation of a Job's Syndrome?]. 54 61
14551710 2003
38
Selective insufficiency of IFN-gamma secretion in patients with hyper-IgE syndrome. 61 54
12708982 2003
39
Hyper immunoglobulin-E syndrome: a case with chronic ear draining mimicking polypoid otitis media. 61 54
12663115 2003
40
[Anesthetic management for a patient with hyper-IgE syndrome]. 54 61
12649874 2003
41
Detection and characterization of plasma cells in peripheral blood: correlation of IgE+ plasma cell frequency with IgE serum titre. 54 61
12452825 2002
42
[Manifestation of hyper-IgE syndrome in advanced HIV-1 infection]. 54 61
11831060 2002
43
Cytokine and chemokine dysregulation in hyper-IgE syndrome. 54 61
11414745 2001
44
[Loss of an eye due to hyper-IgE syndrome after corneal transplantation]. 54 61
11198964 2001
45
[Hyper-IgE syndrome treated with interferon alpha 2 beta. Report of a case]. 54 61
11558395 2000
46
The relationship between serum IgE and surface levels of FcepsilonR on human leukocytes in various diseases: correlation of expression with FcepsilonRI on basophils but not on monocytes or eosinophils. 61 54
10984372 2000
47
Bone marrow transplantation does not correct the hyper IgE syndrome. 61 54
10871737 2000
48
Defective interleukin-12/interferon-gamma pathway in patients with hyperimmunoglobulinemia E syndrome. 61 54
10657822 2000
49
Increase in granulocyte-macrophage-colony-stimulating factor secretion and the respiratory burst with decreased L-selectin expression in hyper-IgE syndrome patients. 61 54
10507271 1999
50
Pentasomy X and hyper IgE syndrome: co-existence of two distinct genetic disorders. 61 54
10485303 1999
Sources

Variations for Hyper Ige Syndrome

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ClinVar genetic disease variations for Hyper Ige Syndrome:

6 (show top 50) (show all 171) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STAT3 NM_139276.2(STAT3):c.1909G>A (p.Val637Met)SNV Pathogenic 18308 rs113994139 17:40474492-40474492 17:42322474-42322474
2 PGM3 NM_015599.3(PGM3):c.248T>C (p.Leu83Ser)SNV Pathogenic 133320 rs267608260 6:83898474-83898474 6:83188755-83188755
3 PGM3 NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr)SNV Pathogenic 133321 rs267608261 6:83880059-83880059 6:83170340-83170340
4 PGM3 NM_015599.3(PGM3):c.1016_1018AAG[1] (p.Glu340del)short repeat Pathogenic 156471 rs267608259 6:83888401-83888403 6:83178682-83178684
5 STAT3 NM_139276.2(STAT3):c.1234A>T (p.Thr412Ser)SNV Pathogenic 633433 rs1567713850 17:40481475-40481475 17:42329457-42329457
6 STAT3 NM_139276.2(STAT3):c.1979T>C (p.Met660Thr)SNV Pathogenic/Likely pathogenic 265261 rs886039434 17:40474422-40474422 17:42322404-42322404
7 DOCK8 NM_203447.3(DOCK8):c.3606T>C (p.Cys1202=)SNV Conflicting interpretations of pathogenicity 366993 rs143919622 9:414857-414857 9:414857-414857
8 DOCK8 NM_203447.3(DOCK8):c.3813A>G (p.Lys1271=)SNV Conflicting interpretations of pathogenicity 366995 rs75411647 9:418180-418180 9:418180-418180
9 DOCK8 NM_203447.3(DOCK8):c.3058A>G (p.Ile1020Val)SNV Conflicting interpretations of pathogenicity 218873 rs151094543 9:396872-396872 9:396872-396872
10 DOCK8 NM_203447.3(DOCK8):c.3543A>G (p.Val1181=)SNV Conflicting interpretations of pathogenicity 227329 rs753242273 9:414794-414794 9:414794-414794
11 DOCK8 NM_203447.3(DOCK8):c.2862A>T (p.Pro954=)SNV Conflicting interpretations of pathogenicity 366955 rs117610764 9:386414-386414 9:386414-386414
12 DOCK8 NM_203447.3(DOCK8):c.380G>A (p.Arg127His)SNV Conflicting interpretations of pathogenicity 366538 rs150742426 9:289557-289557 9:289557-289557
13 DOCK8 NM_203447.3(DOCK8):c.452G>A (p.Arg151Gln)SNV Conflicting interpretations of pathogenicity 366540 rs149918318 9:304628-304628 9:304628-304628
14 DOCK8 NM_203447.3(DOCK8):c.6201A>G (p.Glu2067=)SNV Conflicting interpretations of pathogenicity 367094 rs145573166 9:463649-463649 9:463649-463649
15 DOCK8 NM_203447.3(DOCK8):c.4024-4C>TSNV Conflicting interpretations of pathogenicity 366996 rs111306749 9:420945-420945 9:420945-420945
16 DOCK8 NM_203447.3(DOCK8):c.663C>A (p.Asp221Glu)SNV Conflicting interpretations of pathogenicity 366546 rs139391329 9:312088-312088 9:312088-312088
17 DOCK8 NM_203447.3(DOCK8):c.3022C>T (p.Arg1008Trp)SNV Conflicting interpretations of pathogenicity 178767 rs16937932 9:396836-396836 9:396836-396836
18 DOCK8 NM_203447.3(DOCK8):c.5491-7T>ASNV Conflicting interpretations of pathogenicity 137151 rs184867151 9:443420-443420 9:443420-443420
19 DOCK8 NM_203447.3(DOCK8):c.5211G>A (p.Glu1737=)SNV Conflicting interpretations of pathogenicity 137150 rs34098809 9:439376-439376 9:439376-439376
20 DOCK8 NM_203447.3(DOCK8):c.536C>T (p.Pro179Leu)SNV Uncertain significance 366543 rs772181121 9:311961-311961 9:311961-311961
21 DOCK8 NM_203447.3(DOCK8):c.447A>G (p.Gly149=)SNV Uncertain significance 366539 rs763034264 9:304623-304623 9:304623-304623
22 DOCK8 NM_203447.3(DOCK8):c.218A>G (p.Asn73Ser)SNV Uncertain significance 366536 rs886063849 9:286522-286522 9:286522-286522
23 DOCK8 NM_203447.3(DOCK8):c.1441G>A (p.Asp481Asn)SNV Uncertain significance 366675 rs374938180 9:339024-339024 9:339024-339024
24 DOCK8 NM_203447.3(DOCK8):c.1391C>A (p.Ser464Tyr)SNV Uncertain significance 366673 rs531279290 9:336687-336687 9:336687-336687
25 DOCK8 NM_203447.3(DOCK8):c.*990T>CSNV Uncertain significance 367107 rs1057515587 9:465209-465209 9:465209-465209
26 DOCK8 NM_203447.3(DOCK8):c.3790G>T (p.Ala1264Ser)SNV Uncertain significance 366994 rs886063955 9:418157-418157 9:418157-418157
27 DOCK8 NM_203447.3(DOCK8):c.5296C>T (p.Arg1766Trp)SNV Uncertain significance 367025 rs201776049 9:441358-441358 9:441358-441358
28 DOCK8 NM_203447.3(DOCK8):c.5266A>C (p.Ile1756Leu)SNV Uncertain significance 367024 rs373154957 9:441328-441328 9:441328-441328
29 DOCK8 NM_203447.3(DOCK8):c.5139C>T (p.Asp1713=)SNV Uncertain significance 367022 rs568641163 9:439304-439304 9:439304-439304
30 DOCK8 NM_203447.3(DOCK8):c.828-7A>GSNV Uncertain significance 366578 rs200243583 9:325664-325664 9:325664-325664
31 DOCK8 NM_203447.3(DOCK8):c.36C>A (p.Phe12Leu)SNV Uncertain significance 366228 rs566738926 9:215012-215012 9:215012-215012
32 DOCK8 NM_203447.3(DOCK8):c.34T>G (p.Phe12Val)SNV Uncertain significance 366227 rs886063779 9:215010-215010 9:215010-215010
33 DOCK8 NM_203447.3(DOCK8):c.*603T>CSNV Uncertain significance 367101 rs886063984 9:464822-464822 9:464822-464822
34 DOCK8 NM_203447.3(DOCK8):c.*150A>TSNV Uncertain significance 367097 rs886063981 9:464369-464369 9:464369-464369
35 DOCK8 NM_203447.3(DOCK8):c.6068+11A>CSNV Uncertain significance 367035 rs886063964 9:452128-452128 9:452128-452128
36 DOCK8 NM_203447.3(DOCK8):c.5828C>T (p.Thr1943Ile)SNV Uncertain significance 367034 rs148368084 9:449794-449794 9:449794-449794
37 DOCK8 NM_203447.3(DOCK8):c.5585A>G (p.Tyr1862Cys)SNV Uncertain significance 367027 rs752479766 9:446374-446374 9:446374-446374
38 DOCK8 NM_203447.3(DOCK8):c.5467C>T (p.Pro1823Ser)SNV Uncertain significance 367026 rs766493394 9:441986-441986 9:441986-441986
39 DOCK8 NM_203447.3(DOCK8):c.3519C>T (p.Ala1173=)SNV Uncertain significance 366976 rs144299704 9:407058-407058 9:407058-407058
40 DOCK8 NM_203447.3(DOCK8):c.3254A>G (p.Asn1085Ser)SNV Uncertain significance 366972 rs527474230 9:404937-404937 9:404937-404937
41 DOCK8 NM_203447.3(DOCK8):c.3234+15dupduplication Uncertain significance 366970 rs375864618 9:399274-399274 9:399274-399274
42 DOCK8 NM_203447.3(DOCK8):c.1649G>A (p.Arg550Gln)SNV Uncertain significance 366677 rs886063879 9:340291-340291 9:340291-340291
43 DOCK8 NM_203447.3(DOCK8):c.1391C>T (p.Ser464Phe)SNV Uncertain significance 366674 rs531279290 9:336687-336687 9:336687-336687
44 DOCK8 NM_203447.3(DOCK8):c.5223+4A>GSNV Uncertain significance 367023 rs117109271 9:439392-439392 9:439392-439392
45 STAT3 NM_139276.2(STAT3):c.*2343_*2344deldeletion Uncertain significance 323205 rs886052928 17:40465419-40465420 17:42313401-42313402
46 STAT3 NM_139276.2(STAT3):c.*1850C>TSNV Uncertain significance 323214 rs886052933 17:40465913-40465913 17:42313895-42313895
47 STAT3 NM_139276.2(STAT3):c.*1850C>GSNV Uncertain significance 323215 rs886052933 17:40465913-40465913 17:42313895-42313895
48 STAT3 NM_139276.2(STAT3):c.*1675T>CSNV Uncertain significance 323216 rs886052934 17:40466088-40466088 17:42314070-42314070
49 DOCK8 NM_203447.3(DOCK8):c.3195G>A (p.Arg1065=)SNV Uncertain significance 366968 rs781062154 9:399220-399220 9:399220-399220
50 DOCK8 NM_203447.3(DOCK8):c.3220C>A (p.His1074Asn)SNV Uncertain significance 366969 rs150298985 9:399245-399245 9:399245-399245
Sources

Expression for Hyper Ige Syndrome

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Search GEO for disease gene expression data for Hyper Ige Syndrome.
Sources

Pathways for Hyper Ige Syndrome

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Pathways related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Cytokine Signaling in Immune system 65
Show member pathways
 13.14 TYK2 STAT3 IL6ST IL4 IGHE IFNG
2
Pathways in cancer 36
12.61 STAT3 IL6ST IL4 IFNG
3
Th17 cell differentiation 36
Show member pathways
 12.3 TYK2 STAT3 IL6ST IL4 IFNG
4
Development IGF-1 receptor signaling 22
Show member pathways
 12.23 TYK2 STAT3 IL4 IGHE
5
NF-kappaB Signaling 4
12.23 TYK2 STAT3 IL6ST IL4 IFNG
6
IL-17 Family Signaling Pathways 64
Show member pathways
 12.16 STAT3 IL6ST IL4 IFNG
7
CNTF Signaling 63
Show member pathways
 12.14 TYK2 STAT3 IL6ST
8
Type I Interferon Signaling Pathways 64
Show member pathways
 12.1 TYK2 STAT3 IFNG
9
Toxoplasmosis 36
Show member pathways
 12.05 TYK2 STAT3 IL4 IFNG
10
Necroptosis 36
Show member pathways
 12.01 TYK2 STAT3 IFNG
11
G-protein signaling Ras family GTPases in kinase cascades (scheme) 22
Show member pathways
 12.01 TYK2 STAT3 IL6ST
12
Th1 Differentiation Pathway 64
Show member pathways
 11.82 TYK2 STAT3 IL6ST IFNG
13
Jak-Stat Signaling Pathway (sino) 66
11.7 TYK2 STAT3 IL6ST IFNG
14
IL-6 signaling pathway 1
Show member pathways
 11.68 TYK2 STAT3 IL6ST
15
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.67 STAT3 IFNG
16
Interleukin-4 and 13 signaling 65
11.61 TYK2 STAT3 IL4 IGHE
17
IL12-mediated signaling events 1
Show member pathways
 11.51 TYK2 STAT3 IL4 IFNG
18
Interleukin-6 family signaling 65
Show member pathways
 11.48 TYK2 STAT3 IL6ST
19
JAK-STAT signaling pathway (KEGG) 36
Show member pathways
 11.39 TYK2 STAT3 IL6ST IL4 IFNG
20
Interleukin-10 signaling 65
11.38 TYK2 STAT3 IL4
21
Interleukin-11 Signaling Pathway 1
11.31 TYK2 STAT3 IL6ST
22
RAF-independent MAPK1/3 activation 65
Show member pathways
 11.29 TYK2 IL6ST
23
Jak/STAT Signaling Pathway Intracellular Regulation 64
11.26 TYK2 STAT3
24
Type III Interferon Signaling Pathways 64
Show member pathways
 11.24 TYK2 STAT3
25
IL-10 Pathway 63
11.19 TYK2 STAT3
26
Inflammatory Response Pathway 1
11.16 IL4 IFNG
27
Immune response_IL-6 signaling pathway 22
11.16 STAT3 IL6ST
28
Development and heterogeneity of the ILC family 1
11.14 IL4 IFNG
29
Cytokines and Inflammatory Response 1
11.09 IL4 IFNG
30
Immune response_IL-12 signaling pathway 22
Show member pathways
 11.07 TYK2 STAT3 IFNG
31
IL12 signaling mediated by STAT4 1
11.06 STAT3 IFNG
32
OX40 Pathway 63
11.02 IL4 IFNG
33
Physiological and Pathological Hypertrophy of the Heart 1
11 STAT3 IL6ST
34
Immune response_Oncostatin M signaling via JAK-Stat in human cells 22
10.41 TYK2 STAT3 IL6ST
Sources

GO Terms for Hyper Ige Syndrome

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Biological processes related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.55 TYK2 STAT3 IL6ST IL4 IGHE
2 JAK-STAT cascade GO:0007259 9.49 STAT3 IFNG
3 interleukin-6-mediated signaling pathway GO:0070102 9.48 STAT3 IL6ST
4 positive regulation of ATP biosynthetic process GO:2001171 9.46 STAT3 IL4
5 interleukin-35-mediated signaling pathway GO:0070757 9.43 STAT3 IL6ST
6 positive regulation of MHC class II biosynthetic process GO:0045348 9.4 IL4 IFNG
7 interleukin-23-mediated signaling pathway GO:0038155 9.37 TYK2 STAT3
8 neuroinflammatory response GO:0150076 9.32 IL4 IFNG
9 positive regulation of cellular respiration GO:1901857 9.26 IL4 IFNG
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.26 STAT3 IL6ST IL4 IFNG
11 interleukin-27-mediated signaling pathway GO:0070106 8.8 TYK2 STAT3 IL6ST
Sources

Sources for Hyper Ige Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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